Multiple sites of thrombosis without thrombocytopenia after a second dose of Pfizer-BioNTech COVID-19 vaccine.

In the current international scientific panorama, rare cases of venous thrombotic complications following mRNA vaccine administration have been reported, consisting mainly of cerebral sinus thromboses and acute venous thromboembolism. The present paper describes the case of a 75-year-old woman in good health who developed cerebral venous thrombosis, deep venous thrombosis, and bilateral pulmonary emboli after receiving a second dose of Pfizer-BioNTech COVID-19 vaccine. A series of laboratory tests performed during hospitalization yielded interesting results, allowing us to exclude thrombophilic risk factors and to certify the absence of thrombocytopenia in the patient.

Telemedicine applied to neuromuscular disorders: focus on the COVID-19 pandemic era.

Neuromuscular diseases are rare and usually chronic progressive disorders that require a multidisciplinary clinical evaluation and functional monitoring. The patient-physician relationship and therapies are also key elements to be provided. The COVID-19 pandemic dramatically changed the way patients' health was managed and national health care services underwent a radical reorganization.

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.

Objective: To identify the genetic variants associated with juvenile ALS.

Design, Setting, And Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation.

Electromyoneurography and laboratory findings in a case of Guillain-Barré syndrome after second dose of Pfizer COVID-19 vaccine.

Guillain-Barre syndrome (GBS) is an acute immune-mediated disease of the peripheral nerves and nerve roots (polyradiculoneuropathy) that is usually elicited by various infections. We present a case of GBS after receiving the second dose of Pfizer-COVID 19 vaccine. Diagnosis was made after performing an accurate clinical examination, electromyoneurography and laboratory tests.

Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.

Non-dystrophic myotonias and periodic paralyses are a heterogeneous group of disabling diseases classified as skeletal muscle channelopathies. Their genetic characterization is essential for prognostic and therapeutic purposes; however, several genes are involved. Sanger-based sequencing of a single gene is time-consuming, often expensive; thus, we designed a next-generation sequencing panel of 56 putative candidate genes for skeletal muscle channelopathies, codifying for proteins involved in excitability, excitation-contraction coupling, and metabolism of muscle fibres.

A Three-Dimensional Culture Model of Reversibly Quiescent Myogenic Cells.

Satellite cells (SC) are the stem cells of skeletal muscles. They are quiescent in adult animals but resume proliferation to allow muscle hypertrophy or regeneration after injury. The mechanisms balancing quiescence, self-renewal, and differentiation of SC are difficult to analyze owing to their complexity and because the staminal character of SC is lost when they are removed from the niche and is not adequately reproduced in the culture models currently available.

Impact of sleep disorders on the risk of seizure recurrence in juvenile myoclonic epilepsy.

Objective: The aim of this study was to investigate the presence of sleep disturbances in patients with juvenile myoclonic epilepsy (JME) using sleep questionnaires. Further, we tried to evaluate whether alterations in sleep quality may influence the clinical expression of JME.

Methods: Sixty-two patients with JME treated with levetiracetam were included.

Sleep Apnea, Cognitive Profile, and Vascular Changes: An Intriguing Relationship.

Background: Sleep breathing disorders can affect cognitive performances through complex brain anatomical and functional changes.

Objective: Our aim was to evaluate the correlations between cognitive performances and obstructive sleep apnea syndrome (OSAS), as well as the possible influence of vascular factors.

Methods: Thirty-four non-demented OSAS patients and 34 controls were submitted to a neuropsychological evaluation and to a vascular screening including the study of cerebrovascular reactivity by means of the breath-holding index (BHI) calculation.

Prevalence of obstructive sleep apnea syndrome in a population of patients with transient global amnesia.

Objective: The etiology of transient global amnesia (TGA) is largely undetermined. The aim of this study was to investigate whether the prevalence of obstructive sleep apnea syndrome (OSAS), a condition associated with subtle changes in brain structures involved in memory processes, increases in subjects who have previously experienced a TGA episode.

Methods: Twenty-nine patients who had had a TGA episode were included.

Clinical and genetic factors predicting Dravet syndrome in infants with mutations.

Objective: To explore the prognostic value of initial clinical and mutational findings in infants with mutations.

Methods: Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic accuracy of all parameters, we calculated sensitivity, specificity, receiver operating characteristic (ROC) curves, diagnostic odds ratios, and positive and negative predictive values and the accuracy of combined information.

Obstructive Sleep Apnea Syndrome: An Emerging Risk Factor for Dementia.

Epidemiological studies have suggested that obstructive sleep apnea syndrome (OSAS) may increase the risk of developing cognitive impairment. In patients with Alzheimer's disease (AD), the prevalence of OSAS is much higher than that expected in cognitively healthy subjects. A deeper knowledge of the pathophysiological link between OSAS and AD and the demonstration that OSAS may directly influence the development of cognitive alterations, would increase prevention and treatment strategies for AD patients.

Thresholds of impaired cerebral hemodynamics that predict short-term cognitive decline in asymptomatic carotid stenosis.

Subjects with asymptomatic carotid stenosis (ACS) may be at risk of cognitive impairment due to cerebral hypoperfusion. In this study, we aimed to detect a threshold of cerebral hemodynamics which is able to identify subjects at risk of cognitive deterioration. In subjects with ACS, cerebral vasomotor reactivity (CVR) was assessed with the breath-holding index (BHI) transcranial Doppler-based method.

The role of specific early trauma in adult depression: A meta-analysis of published literature. Childhood trauma and adult depression.

Background: A large literature has long focused on the role of trauma in childhood and risk for psychological disorders in adulthood. Despite several studies performed, to date, it is not clear which weight have different childhood stressors specifically on the risk for depression in adult life. In the present study, we performed a meta-analysis of the literature in order to assess the effective role of childhood traumas as risk factor in the onset of depressive disorders in adults.

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: is there a common core deficit?

We report a three-generation, clinically heterogeneous family in which we identify a novel inherited splicing mutation of the SCN1A gene. Thirteen subjects were submitted to genetic analysis, clinical and instrumental examination, and neuropsychological assessment. In eight subjects, a heterozygous c.

Sea piracy sequelae: assessment according to the Diagnostic and Statistical Manual of Mental Disorders-5.

Background: Our previous studies have investigated the psychological consequences of kidnapping in a group of Italian seafarers assaulted by sea pirates and held in captivity and in their family members by the criteria of the Diagnostic and Statistical Manual of Mental Disorders (DSM)-4. These studies have shown that both the victims and the family members showed significant psychological disturbances, corresponding to a chronic Post-Traumatic Stress Disorder (PTSD), in the victims, and a pattern of anxiety and depression in their family members. After publication of these studies, an updated edition of the DSM became available, namely, the DSM-5.

Vaccination and occurrence of seizures in SCN1A mutation-positive patients: a multicenter Italian study.

Background: The relation between epileptic seizures and vaccinations is sometimes debated. In the present work, the impact of vaccination on seizure onset and clinical outcome of SCN1A mutation-positive patients is addressed.

Methods: Seventy-two patients diagnosed with Dravet syndrome or generalized epilepsy with febrile seizure plus, carrying SCN1A mutations or not, were included.

Emergency room access for recurring seizures: when and why.

Background And Purpose: To develop a hypothetical model identifying potentially modifiable predictive factors of Emergency Room (ER) visits by patients suffering from drug resistant epilepsy.

Methods: During a 1-year period, all adult drug resistant patients followed by the same epileptologist were recruited after the occurrence of one or more epileptic attacks. They were divided into two groups based on whether they went to the ER after seizures.

Early clinical features in Dravet syndrome patients with and without SCN1A mutations.

Background: SCN1A is the most clinically relevant epilepsy gene, most mutations causing Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI). We evaluated clinical differences, if any, between young patients with and without a SCN1A mutations and a definite clinical diagnosis of Dravet syndrome.

Methods: Twenty-five patients with a diagnosis of Dravet Syndrome (7 males, 18 females; mean age at inclusion: 10.

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.

Deletions and duplications/amplifications of the α1-sodium channel subunit (SCN1A) gene occur in about 12% of patients with Dravet syndrome (DS) who are otherwise mutation-negative. Such genomic abnormalities cause loss of function, with severe phenotypes, reproductive disadvantage and, therefore, sporadic occurrence. Inherited mutations, occurring in ∼5% of patients with DS, are usually missense; transmission occurs from a mildly affected parent exhibiting febrile seizures (FS) or the generalized epilepsy with febrile seizures plus (GEFS+) spectrum.

Clinical course of young patients with Dravet syndrome after vagal nerve stimulation.

Medical treatment of Dravet syndrome is disappointing. Ketogenic Diet and neurostimulation procedures as Vagus Nerve Stimulation (VNS) and Deep Brain Stimulation are in ongoing evaluation. In the present study, the long-term effectiveness of VNS on seizures, cognition and behavior was retrospectively evaluated in eight young patients with DS and medically refractory epilepsy (mean age at VNS implant: 10.

Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis.

The goal of the study was to assess the long-term seizure and neuropsychologic outcomes of patients with tuberous sclerosis and refractory epilepsy who received vagus nerve stimulator implantation. Eleven patients with a follow-up period of at least 12 months were studied retrospectively. The mean age at the time of implantation was 14 years (range, 2-35).