Hidden pandemic: COVID-19-related stress, SLC6A4 methylation, and infants' temperament at 3 months.

The COVID-19 pandemic represents a collective trauma that may have enduring stress effects during sensitive periods, such as pregnancy. Prenatal stress may result in epigenetic signatures of stress-related genes (e.g., the serotonin transporter gene, SLC6A4) that may in turn influence infants' behavioral development. In April 2020, we launched a longitudinal cohort study to assess the behavioral and epigenetic vestiges of COVID-19-related prenatal stress exposure in mothers and infants. COVID-19-related prenatal stress was retrospectively assessed at birth. SLC6A4 methylation was assessed in thirteen CpG sites in mothers and infants' buccal cells. Infants' temperament was assessed at 3-month-age. Complete data were available from 108 mother-infant dyads. Greater COVID-19-related prenatal stress was significantly associated with higher infants' SLC6A4 methylation in seven CpG sites. SLC6A4 methylation at these sites predicted infants' temperament at 3 months.

Guillain-Barré syndrome.

The term Guillain-Barré syndrome (GBS), the most frequent cause of acute paralytic neuropathy, covers a number of recognisably distinct variants. The exact cause of GBS is unknown, but 50-70% of cases appear 1-2weeks after a respiratory or gastrointestinal infection, or another immune stimulus that induces an aberrant autoimmune response targeting peripheral nerves and their spinal roots. The interplay between the microbial and host factors that dictate whether and how the immune response shifts towards autoreactivity is still unclear, and nothing is known about the genetic and environmental factors that affect an individual's susceptibility to the disease. All patients with GBS need meticulous monitoring, and can benefit from supportive care and the early start of specific treatment. This review summarises the clinical features and diagnostic criteria of GBS and proposes an algorithm for its management. An analysis of the literature showed that, about one century after it was first described, new information concerning its etiopathogenesis has allowed the development of new treatment strategies that should be started immediately after diagnosis; however, the available therapies are not sufficient in many patients, especially in the presence of the acute inflammatory demyelinating polyneuropathy. New post-infectious forms, such as those caused by Zika virus and enterovirus D68, need to be carefully analysed and, in order to improve patient outcomes, research should continue to aim at identifying new biomarkers of disease severity and better means of avoiding axonal injury.

Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients.

BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases involving neuromuscular transmission. The classification of these syndromes is based on the localization of the defect (pre-synaptic, post-synaptic, and neuromuscular junction) and on the molecular analysis. AIM: To report on a series of 7 patients affected by post-synaptic CMS. PATIENTS AND METHODS: We examined sex, familiarity, age of onset, clinical symptoms, and response to tensilon test, patellar and pupillary reflexes, presence of cranial nerve involvement, Gowers' sign, presence of ptosis, grade of muscular weakness, and response to the treatment and gene deletions. RESULTS: Ptosis, muscular hypotonia, and light variability in muscular weakness were the main clinical signs. Cholinergic receptor, nicotinic, epsilon (CHRNE) gene mutations were mainly reported. CONCLUSIONS: The study points out that the clinical and molecular pattern reported in our patients do not differentiate from the data reported in the literature. Treatment with pyridostigmine and modulation of the therapy allows a good quality of life.

Congenital talipes equinovarus: an epidemiological study in Sicily.

BACKGROUND AND PURPOSE: Congenital talipes equinovarus (clubfoot) can present in 2 forms: "syndromic", in which other malformations exist, and the more common "idiopathic" form, where there are no other associated malformations. We analyzed the epidemiology of congenital talipes equinovarus in the Sicilian population, looking for potential etiological factors. PATIENTS AND METHODS: Among the 801,324 live births recorded between January 1991 and December 2004, 827 cases were registered (560 males; M/F sex ratio: 2.1). Control infants were randomly selected from a historical cohort of live births without any major congenital malformations. RESULTS: A positive family history of clubfoot, gender, and maternal smoking were found to be risk factors for clubfoot. Patients with clubfoot were born most frequently during the period January-March. No association was found between clubfoot and reproductive history, peri-conceptional maternal drug exposure, maternal education, or ethnicity. INTERPRETATION: Our findings emphasize the importance of birth defects surveillance programs and their usefulness in investigating potential risk factors.

Recurrent Hopkin's syndrome: a case report and review of the literature.

Flaccid paralysis affecting one or more limbs after an asthma attack is a poliomyelitis-like illness known as Hopkins' syndrome (HS). Although a viral infection or multifactorial immune suppression during an acute attack of bronchial asthma has been proposed to be the mechanism involved in this syndrome, the precise etiopathogenetic mechanism remains unknown. We report a 13-year-old girl who had recurrent acute episodes of myelitis after asthma attacks. She had four episodes of acute flaccid paralysis, each of which was preceded by acute asthma attacks. Some of the attacks were accompanied by sensory and sphincter disturbances. She had hyperIgEaemia and the prick test to Dermatophagoides farinae and cedar pollen was strongly positive. The present case is the first HS case demonstrating frequent recurrences and suggests a possible link between HS and atopic myelitis.