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  • 1
    In: Frontiers in Neuroscience, Frontiers Media SA, Vol. 17 ( 2023-3-20)
    Abstract: Rett syndrome (RTT) is a rare and severe neurological disorder mainly affecting females, usually linked to methyl-CpG-binding protein 2 (MECP2) gene mutations. Manifestations of RTT typically include loss of purposeful hand skills, gait and motor abnormalities, loss of spoken language, stereotypic hand movements, epilepsy, and autonomic dysfunction. Patients with RTT have a higher incidence of sudden death than the general population. Literature data indicate an uncoupling between measures of breathing and heart rate control that could offer insight into the mechanisms that lead to greater vulnerability to sudden death. Understanding the neural mechanisms of autonomic dysfunction and its correlation with sudden death is essential for patient care. Experimental evidence for increased sympathetic or reduced vagal modulation to the heart has spurred efforts to develop quantitative markers of cardiac autonomic profile. Heart rate variability (HRV) has emerged as a valuable non-invasive test to estimate the modulation of sympathetic and parasympathetic branches of the autonomic nervous system (ANS) to the heart. This review aims to provide an overview of the current knowledge on autonomic dysfunction and, in particular, to assess whether HRV parameters can help unravel patterns of cardiac autonomic dysregulation in patients with RTT. Literature data show reduced global HRV (total spectral power and R-R mean) and a shifted sympatho-vagal balance toward sympathetic predominance and vagal withdrawal in patients with RTT compared to controls. In addition, correlations between HRV and genotype and phenotype features or neurochemical changes were investigated. The data reported in this review suggest an important impairment in sympatho-vagal balance, supporting possible future research scenarios, targeting ANS.
    Type of Medium: Online Resource
    ISSN: 1662-453X
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2411902-7
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  • 2
    Online Resource
    Online Resource
    Frontiers Media SA ; 2023
    In:  Frontiers in Medicine Vol. 10 ( 2023-6-15)
    In: Frontiers in Medicine, Frontiers Media SA, Vol. 10 ( 2023-6-15)
    Abstract: Little is known about intraoperative cardiac arrest during anesthesia care. In particular, data on characteristics of cardiac arrest and neurological survival are scarce. Methods We conducted a single-center retrospective observational study evaluating anesthetic procedures from January 2015 until December 2021. We included patients with an intraoperative cardiac arrest and excluded cardiac arrest outside of the operating room. The primary outcome was the return of spontaneous circulation (ROSC). Secondary outcomes were sustained ROSC over 20 min, 30-day survival, and favorable neurological outcome according to Clinical Performance Category (CPC) 1 and 2. Results We screened 228,712 anesthetic procedures, 195 of which met inclusion criteria and were analyzed. The incidence of intraoperative cardiac arrest was 90 (CI 95% 78–103) in 100,000 procedures. The median age was 70.5 [60.0; 79.4] years, and two-thirds of patients ( n  = 135; 69.2%) were male. Most of these patients with cardiac arrest had ASA physical status IV ( n  = 83; 42.6%) or V ( n  = 47; 24.1%). Cardiac arrest occurred more frequently ( n  = 104; 53.1%) during emergency procedures than elective ones ( n  = 92; 46.9%). Initial rhythm was pre-dominantly non-shockable with pulseless electrical activity mostly. Most patients ( n  = 163/195, 83.6%; CI 95 77.6–88.5%) had at least one instance of ROSC. Sustained ROSC over 20 min was achieved in most patients with ROSC ( n  = 147/163; 90.2%). Of the 163 patients with ROSC, 111 (68.1%, CI 95 60.4–75.2%) remained alive after 30 days, and most ( n  = 90/111; 84.9%) had favorable neurological survival (CPC 1 and 2). Conclusion Intraoperative cardiac arrest is rare but is more likely in older patients, patients with ASA physical status ≥IV, cardiac and vascular surgery, and emergency procedures. Patients often present with pulseless electrical activity as the initial rhythm. ROSC can be achieved in most patients. Over half of the patients are alive after 30 days, most with favorable neurological outcomes, if treated immediately.
    Type of Medium: Online Resource
    ISSN: 2296-858X
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2775999-4
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  • 3
    In: Frontiers in Neurology, Frontiers Media SA, Vol. 13 ( 2022-5-13)
    Abstract: Craniopharyngiomas are rare brain tumors of the sellar region and are the most common non-neuroepithelial intracerebral neoplasm in children. Despite a low-grade histologic classification, craniopharyngiomas can have a severe clinical course due to hypothalamic involvement. The hypothalamus plays a crucial role in regulating vital functions, and it is a critical component of the sleep-wake regulatory system. This systematic review aims to provide an overview of the current knowledge on sleep disorders in patients with craniopharyngioma to unravel their underlying mechanisms and identify possible therapeutic strategies. A comprehensive electronic literature search of the PubMed/MEDLINE and Scopus databases was conducted in accordance with the PRISMA ® statement. Extensively published, peer-reviewed articles involving patients with childhood craniopharyngioma and focused on this specific topic were considered eligible for inclusion. Thirty-two articles were included; a high prevalence of excessive daytime sleepiness was reported in CP patients, with wide variability (25–100%) depending on the diagnostic method of detection (25–43% by subjective measures, 50–100% by objective investigations). In particular, secondary narcolepsy was reported in 14–35%, sleep-disordered breathing in 4–46%. Moreover, sleep-wake rhythm dysregulation has been notified, although no prevalence data are available. Possible mechanisms underlying these disorders are discussed, including hypothalamic injury, damage to the suprachiasmatic nucleus, low melatonin levels, hypocretin deficiency, and hypothalamic obesity. The diagnosis and management of sleep disorders and associated comorbidities are challenging. This review summarizes the pathophysiology of sleep disorders in childhood-onset CP and the main treatment options. Finally, a possible diagnostic algorithm in order to accurately identify and treat sleep disorders in these patients is proposed.
    Type of Medium: Online Resource
    ISSN: 1664-2295
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2564214-5
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  • 4
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 8 ( 2021-1-18)
    Abstract: Introduction: Cryoanalgesia has been recently described as alternative technique for immediate and persistent pain treatment after pectus excavatum repair. Cryoanalgesia has the potentiality to reduce analgesic consumption and length of hospitalization. However, cryoanalgesia has not been standardized yet: the previous reports describe different techniques and systems and include only small series. In Europe, no reports on cryoanalgesia for pectus repair have been published so far. Materials and Methods: This is a prospective single center pilot study performed in adolescents undergoing minimally invasive pectus excavatum repair with a new cryoanalgesia system, using a probe designed specifically for thoracoscopy. This new double lumen probe has the theoretical advantage of freezing only in its tip, so reducing the risk of complications. Results: Seven patients undergoing pectus excavatum repair were treated with cryoanalgesia performed with the new probe. No complications of cryoanalgesia were reported. Total consumption of morphine during hospital stay was between 0.1 and 0.35 mg/kg, with no side effects reported. Mean time to discharge was 2.4 days. All patients reported a good pain control with a fair need of rescue medications for pain relief during the first week after discharge, and a very good pain control without need of rescue medications during following weeks. Conclusions: Our pilot study showed that the new cryoanalgesia device is efficacious in terms of pain control, hospital stay and resumption of post-operative activities. The cryoprobe designed allowed an easy and safe maneuver. A prospective trial is needed to better define the risks and benefits of this technique.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2711999-3
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