Comparison among history indicated cercalge, ultrasound indicated cerclage and physical exam indicated cerclage since 2001 to 2013

Obiettivi: L’obiettivo dello studio è stato quello di valutare l’utilizzo del cerchiaggio cervicale, in relazione alle diverse indicazioni per cui è stato eseguito, presso la Clinica Ostetrica e Ginecologica del Policlinico Universitario Sant’Orsola-Malpighi di Bologna, tra Gennaio 2001 e Dicembre 2013. Outcome secondario e’ stato quello di paragonare i risultati ottenuti con le più recenti evidenze scientifiche per valutare come esse abbiano influenzato l’utilizzo del cerchiaggio nel nostro centro. Materiali e metodi: valutazione osservazionale di tutte le pazienti sottoposte a cerchiaggio cervicale presso il nostro centro. La popolazione di studio e’ stata suddivisa in 5 gruppi in relazione all’indicazione per cui il cerchiaggio e’ stato eseguito: cerchiaggio elettivo (I), eco indicato (II), d’emergenza (III), in gravidanze gemellari (IV) e in gravidanze trigemine (V). Di tutte le pazienti e’ stato valutato l’outcome della gravidanza (epoca gestazionale al parto, peso neonatale, Apgar score) e l’appropriatezza dell’indicazione al cerchiaggio. Risultati: nel corso dei 13 anni in studio sono stati eseguiti 191 cerchiaggi: 109 nel I gruppo, 24 nel II, 39 nel III, 13 e 6 rispettivamente nel IV e V gruppo. In un caso il cerchiaggio e’ stato eseguito per via laparoscopica prima dell’insorgenza della gravidanza. La distribuzione dei diversi tipi di cerchiaggio e’ cambiata: dal 2007 non vengono seguiti cerchiaggi in gravidanze multiple, sono diminuiti quelli elettivi e sono aumentati i cerchiaggi d’emergenza pur essendo i casi con morbilità materna maggiore: in una paziente si e’ verificato un aborto settico con shock settico materno e si e’ reso necessario un intervento di isterectomia. Conclusioni: l'applicazioni di indicazioni piu' selettive all’esecuzione del cerchiaggio hanno determinato una forte riduzione dell’utilizzo da tale procedura. L'aumento dell'utilizzo del cerchiaggio d’emergenza e' legato al fatto che rappresenta l’ultima chance per convertire un aborto inevitabile in un parto di neonato vivo in casi estremi.Object: The porpoise of our study is to evaluate the utility of cervical cerclage in prevention of preterm birth in relation to different indications it is placed for, at the University Hospital Sant’Orsola-Malpighi of Bologna in a 13 years period (since January 2001 to December 2013). The second Outcome is to compare our results with recent scientific evidence to evaluate how they modified our practice. Methods: it was a retrospective evaluation of all women underwent cervical cerclage in our center. The population was divided in 5 groups: I group had History indicated cerclage, II group had ultrasound indicated cerclage, III group had physical exam indicated cerclage, IV and V were twin and triplet pregnancy. For each pregnancy we record in an ad Hoc data base: pregnancy outcome (delivery gestational age, birth weight, Apgar score, PH and Base Excess) and the Appropriateness of the indications. Resultes: 191 cerclages were performed in these 13 years: 109 group I, 24 Group II, 39 group III, and 13 and 6 group IV and V respectively. There was one transabdominal laparoscopic cerclage performed before pregnancy. Distribution of different cerclage indication is change during years: since 2007 no cerclages were used in multiple pregnancy; we placed less history indicated cerclage than we did in the past instead physical exam indicated cerclages were more frequent even if they had higher morbility rate. We had one septic abortion with maternal septic shock and subsequent hysterectomy in group III. Conclusion: restricted indications for cervical cerclage caused a reduction in number of cerclage placement. Physical exam indicated cerclage appere to be the last chance to convert an anavoidable abortion in a birth of a new born baby

Sleep related hyper motor epilepsy (SHE): a unique syndrome with heterogeneous genetic etiologies

Abstract Sleep-related hypermotor epilepsy (SHE), formerly known as Nocturnal Frontal Lobe Epilepsy is a focal epilepsy characterized by seizures with complex hyperkinetic automatisms and/or asymmetric tonic/dystonic posturing occurring mostly during sleep. SHE is a rare disease with an estimated minimum prevalence of 1.8/100,000 individuals and represent about 10% of drug-resistant surgical cases. This disorder, though uncommon, is of considerable interest to a broad spectrum of specialists, from child neurologists to neurosurgeons. Distinguishing this condition from non-epileptic paroxysmal behaviour occurring physiologically or pathologically during sleep is often difficult and sometimes impossible on clinical grounds alone, even for experienced epileptologists and sleep physicians. Recognized aetiologies of SHE are heterogeneous and include acquired injuries, genetic causes and structural anomalies such as focal cortical dysplasia. Multiple aetiologies (structural-genetic) are also possible. Non-specific clinical features distinguished different aetiologies even if SHE due to structural lesions usually manifests with early-onset drug-resistant seizures and showed a worse long-term prognosis. The causative genes for SHE are multiple and encode for proteins involved in different molecular pathways. The cholinergic system and the mTOR pathway are the most relevant. This review will provide an exhaustive overview of the genetic background of SHE

Processi di pianificazione, conformazione della proprietà, valutazione: un modello per la stima a fini fiscali delle aree edificabili

The analysis of the most recent regional urban planning laws, rules and court rulings on tax matters revealed a contradiction about the attribute of building areas. The new generation of urban plans provide for the separation between the strategic plan and can attribute to areas a destination of possible future building devoid of conformative character. The tax authorities, however, consider these areas as building areas for tax purposes (IMU in particular), although the conformative process of building capacity is not yet completed. On the basis of laws, the owners of these areas, therefore, are required to pay taxes for years for building land that did not have any potential buildable. It is clear the contradiction between planning instruments and tax rules. A fair taxation of real estate is essential to protect both the public and private: the study therefore aims to identify a model that allows to formalize the dynamic mechanism of consolidation of land value as a function of the different steps of the conformative process. The objective is to define a flexible model capable of broad generality and can thus be used in different regulatory environments and enable the government to manage a system of building areas taxation more equitable. The research is developed through the study of interdisciplinary literature, and legal and legislative sources through the analysis of several case of studies that relate to the application of local taxes in different areas of the country. Elaborations carried out then led to the preparation of a regression model that consider as the dependent variable the natural logarithm of unit prices and as independent variables the location of these areas and their related administrative process. The prepared model is very simply. The market value of building land is expressed as a function of two variables: the position and the progress of the conformative process of the property. The development of the model has allowed us to identify the difference between the value of building land characterized by different levels of the administrative procedure. The differences of the values confirm that the land market has implemented the directions of the regional legislature, has learned and assessed the levels of uncertainty associated with the new regulatory framework, the timing and uncertainty of new planning instruments and has segmented its value, therefore, of the assets to the indirect utility function of administrative legal proceedings

IDIOPATHIC PARTIAL EPILEPSY WITH AUDITORY FEATURES (IPEAF): A CLINICAL AND GENETIC STUDY OF 53 SPORADIC CASES

The purpose of our study was to describe the clinical characteristics of sporadic (S) cases of partial epilepsy with auditory features (PEAF) and pinpoint clinical, prognostic and genetic differences with respect to previously reported familial (F) cases of autosomal dominant partial epilepsy with auditory features (ADPEAF). We analysed 53 patients (24 females and 29 males) with PEAF diagnosed according to the following criteria: partial epilepsy with auditory symptoms, negative family history for epilepsy and absence of cerebral lesions on NMR study. All patients underwent a full clinical, neuroradiological and neurophysiological examination. Forty patients were screened for mutations in LGI1/epitempin, which is involved in ADPEAF. Age at onset ranged from 6 to 39 years (average 19 years). Secondarily generalized seizures were the most common type of seizures at onset (79%). Auditory auras occurred either in isolation (53%) or associated with visual, psychic or aphasic symptoms. Low seizure frequency at onset and good drug responsiveness were common, with 51% of patients seizure-free. Seizures tended to recur after drug withdrawal. Clinically, no major differences were found between S and F patients with respect to age at onset, seizure frequency and response to therapy. Analysis of LGI1/epitempin exons failed to disclose mutations. Our data support the existence of a peculiar form of non-lesional temporal lobe epilepsy closely related to ADPEAF but without a positive family history. This syndrome, here named IPEAF, has a benign course in the majority of patients and could be diagnosed by the presence of auditory aura. Although LGI1 mutations have been excluded, genetic factors may play an aetiopathogenetic role in at least some of these S cases

Akinetic mutism in COVID-19-related encephalopathy: A cytokine-mediated maladaptive sickness behavioral response?

open6sin.a.Pubblicato nella sezione "Viewpoint" della rivistanonePensato, Umberto; Muccioli, Lorenzo; Janigro, Damir; Guarino, Maria; Bisulli, Francesca; Cortelli, PietroPensato, Umberto; Muccioli, Lorenzo; Janigro, Damir; Guarino, Maria; Bisulli, Francesca; Cortelli, Pietr

MECP2 duplication syndrome: The electroclinical features of a case with long-term evolution

MECP2 duplication syndrome (MDS) is a rare and severe neurodevelopmental disorder frequently associated with epilepsy. Different seizure types and electroencephalographic (EEG) patterns were described in patients with MDS, although it lacks a specific phenotype. We report on an adult patient with long-term epilepsy showing an evolution of the EEG pattern that progressively changed into burst suppression (BS) during sleep. As BS has not been previously reported in MDS, this report expands the neurophysiological phenotype of MDS and further suggest the possible occurrence of a longitudinal spectrum of seizure types and EEG patterns in MDS

Heart Rate Variability as a Tool for Seizure Prediction: A Scoping Review

: The most critical burden for People with Epilepsy (PwE) is represented by seizures, the unpredictability of which severely impacts quality of life. The design of real-time warning systems that can detect or even predict ictal events would enhance seizure management, leading to high benefits for PwE and their caregivers. In the past, various research works highlighted that seizure onset is anticipated by significant changes in autonomic cardiac control, which can be assessed through heart rate variability (HRV). This manuscript conducted a scoping review of the literature analyzing HRV-based methods for detecting or predicting ictal events. An initial search on the PubMed database returned 402 papers, 72 of which met the inclusion criteria and were included in the review. These results suggest that seizure detection is more accurate in neonatal and pediatric patients due to more significant autonomic modifications during the ictal transitions. In addition, conventional metrics are often incapable of capturing cardiac autonomic variations and should be replaced with more advanced methodologies, considering non-linear HRV features and machine learning tools for processing them. Finally, studies investigating wearable systems for heart monitoring denoted how HRV constitutes an efficient biomarker for seizure detection in patients presenting significant alterations in autonomic cardiac control during ictal events

Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy

KCNQ2-associated brain abnormalities include thinning of the corpus callosum but complete ACC has never been reported

FDG-PET findings and alcohol-responsive myoclonus in a patient with Unverricht-Lundborg disease

The aim of this report is to describe clinical, EEG, and neuroimaging findings in a patient with UnverrichtLundborg disease (ULD), the most common form of progressive myoclonus epilepsy (PME). A 23-year-old male with genetically confirmed ULD had a phenotype consisting of myoclonus, generalized seizures, intellectual disability, ataxia, and dysarthria. Myoclonus and gait disturbance were strongly ameliorated by alcohol consumption. EEG revealed a posterior dominant rhythm with alpha variant, mild bilateral slowing, and anterior-predominant epileptiform abnormalities. Brain MRI showed mild cerebellar atrophy. FDG-PET revealed hypometabolism more prominent in the posterior brainstem, thalami, frontal and parietal lobes. This report confirms that alcohol may ameliorate myoclonus in a subset of patients with PME, including genetically confirmed ULD. In addition, the presence of FDG-PET hypometabolism predominant in the frontoparietal region and thalami has not been previously described in ULD, yet is consistent with previous brain morphometry studies showing motor cortex and thalamic atrophy in ULD, and brings into question the possibility of a shared metabolic pattern with other PMEs, notably Lafora disease. (c) 2022 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)