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Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected by a late onset dystonic and ataxic progressive syndrome, caused by a novel heterozygous pathogenic variant in the IRF2BPL gene. [ABSTRACT FROM AUTHOR]

Background Eritrean migrants accounted for the majority of people who drowned in the Mediterranean this year. Recently, data deficit about international migration has been reported. Methods One hundred and thirty-three Eritrean migrants, upon their arrival in Italy, were accommodated at the asylum seekers center of Castelnuovo di Porto, together with 25 sanitary workers, and received microbiological surveillance at the Clinical Pathology and Microbiology Unit of the University Campus Bio-Medico of Rome. Results Gram-negative bacteria, mostly Klebsiella pneumoniae and Klebsiella oxytoca, were frequently recovered in surveillance swabs. Gram-positive bacteria, represented by Streptococcus pneumoniae , Streptococcus pyogenes, Streptococcus dysgalactiae and Staphylococcus aureus, were also isolated in surveillance swabs. In migrants, polymicrobial swabs were recovered at high frequency, and unusual microorganisms, rarely found in our country, were isolated. Conclusion The polymicrobial colonization and the high prevalence of gram-negative bacteria represent the baseline characteristics of this migrant population from Eritrea. The presence of unusual microorganisms can be potentially pathogenic to asymptomatic carriers at risk of developing clinical disease if immunosuppressed or subjected to invasive procedures. In conclusion, active microbiological surveillance can represent an advantage for the host country in terms of data collection and by tracing unusual or resistant microorganisms by monitoring migrants' health status. [ABSTRACT FROM AUTHOR]

Highlights • Cold-induced urticaria is a variety of urticaria induced by exposure to cold object. • We describe a patient who developed post-infectious sensory neuropathy and cold urticaria. • Anti-ganglioside antibodies search in serum was positive for anti-GQ1b and anti-GT1a IgG. • This is the first report of an association between a sensory neuropathy and cold urticaria. Abstract A 64 years-old woman presented subacute onset distal paraesthesia concurrently with cold-induced urticaria, a rare form of physical urticaria. Both the disturbances developed a fortnight after an upper respiratory tract infection. EMG confirmed an exclusively sensory polyneuropathy, with prolongation of distal latencies and reduction of amplitudes. Anti-GQ1b and anti-GT1a antigangliosides antibodies were found in serum. The clinical workout included CSF analysis, cryoglobulin and paraprotein search, neurotropic infective agents, neoplastic markers and extensive autoimmune disease antibodies analysis, all of which resulted negative. Intravenous immunoglobulins were administered, leading to progressive resolution of the sensory disturbance, while a combination of steroid and anti-histaminics treatment was used for the urticaria. The positivity for anti-ganglioside search with an EMG pattern characterized by a mixture of demyelinating and axonal features may suggest a nodo-paranodopathy at early stages. This is the first case of an association between an acute sensory neuropathy and cold urticaria, two immune mediated conditions apparently due to very different hypersensitivity pathways. A proposed mechanism for the co-occurence of these two conditions is presented, whereas this case expands the clinical spectrum of autoimmune diseases associated with anti-GQ1b and anti-GT1a antibodies. [ABSTRACT FROM AUTHOR]

Summary Background Three years of civil war in Syria have caused death and increase of communicable diseases. The suffering population has been forced to migrate creating a fertile condition for epidemic spread of infection within the refugee camps. Methods Forty-eight Syrian migrants, upon their arrival in Italy, were accommodated at the asylum seekers centre of Castelnuovo di Porto. They received a physical examination and were subjected to microbiological surveillance by blood, rectal, pharyngeal and nasal swabs collection and delivering to the Clinical Pathology and Microbiology Laboratory of the University Campus Bio-Medico of Rome. Results All refugees resulted negative for HBV, HCV and HIV infections. In swabs a large number of unusual gram-negative bacteria species were isolated, such as Pseudomonas putida , Pseudomonas monteilii , Pseudomonas fulva , Pseudomonas moselii , Aeromonas veronii , Aeromonas caviae , Aeromonas hydrophila , Acinteobacter guilloviae , Acinteobacter lowffii ; Acinetobacter johnsonii ; Acinteobacter tjernbergae ; Pantoea agglomerans ; Pantoea calida . Among isolates, strains resistant to carbapenems, ESBL producers and methicillin resistant were found . Conclusions The microbiological surveillance performed represents a useful action to understand refugees health status and to trace unusual microorganisms movement even carriers of antimicrobial resistance during migrants traveling. [ABSTRACT FROM AUTHOR]

Introduction Continuous infusion of levodopa/carbidopa intestinal gel (LCIG) is an effective treatment for patients with advanced Parkinson Disease (PD) that cannot be further improved by oral therapy. Methods We conducted an observational, prospective, and multicenter study to collect, in a large sample of PD treated with LCIG, long-term information about the outcome and safety of the treatment. The assessments were performed before LCIG, 1, 3, 6 months after, and ever since, every 6 months. Results We studied 72 patients with a mean observation time of 22 months and a maximum of 48 months. During follow-up 28 patients discontinued the treatment, especially for lack of efficacy or adverse events related to the drug. We obtained a significant improvement of motor and non-motor fluctuations, mean off time and some non-motor symptoms. A significant increase in the percentage of time with dyskinesias was found in patients having less than 50% of the day with dyskinesias before LCIG. However, patients having already many dyskinesias before LCIG experienced a significant decrease of the troublesome dyskinesias, meaning that outcomes might be different depending on specific clinical characteristics. Adverse effects were in general minor but one case of intestinal perforation and one of abdominal cellulite were observed. Conclusions We confirmed that LCIG is a very effective treatment option for advanced PD; however considering the findings that dyskinesia can increase and the potential for serious side effects, we suggest the necessity for development of guidelines that better define the profile of responders. [ABSTRACT FROM AUTHOR]

Background: Mutations in Janus kinase 3 (JAK3) are a cause of severe combined immunodeficiency, but hypomorphic JAK3 defects can result in a milder clinical phenotype, with residual development and function of autologous T cells. Maternal T-cell engraftment is a common finding in infants with severe combined immunodeficiency but is not typically observed in patients with residual T-cell development. Objective: We sought to study in detail the molecular, cellular, and humoral immune phenotype and function of 3 patients with hypomorphic JAK3 mutations. Methods: We analyzed the distribution and function of T and B lymphocytes in 3 patients and studied the in vitro and in vivo responses of maternal T lymphocytes in 1 patient with maternal T-cell engraftment and residual production of autologous T lymphocytes. Results: B cells were present in normal numbers but with abnormal distribution of marginal zone–like and memory B cells. B-cell differentiation to plasmablasts in vitro in response to CD40 ligand and IL-21 was abolished. In 2 patients the T-cell repertoire was moderately restricted. Surprisingly, 1 patient showed coexistence of maternal and autologous T lymphocytes. By using an mAb recognizing the maternal noninherited HLA-A2 antigen, we found that autologous cells progressively accumulated in vivo but did not compete with maternal cells in vitro. Conclusion: The study of 3 patients with hypomorphic JAK3 mutations suggests that terminal B-cell maturation/differentiation requires intact JAK3 function, even if partially functioning T lymphocytes are present. Maternal T-cell engraftment can occur in patients with JAK3 mutations despite the presence of autologous T cells. [Copyright &y& Elsevier]

Summary: Dopaminergic neurons play a major role in controlling movement and behavior. In Parkinson's disease (PD), dopaminergic denervation is responsible for a number of motor and non-motor symptoms including tremor, rigidity and akinesia and as well apathy, impulsivity and other behavioral complications frequently reported in these patients. In this review, we will summarize the possible proposed dopaminergic mechanisms responsible for these complications in PD, focusing mainly on the role of this neurotransmitter in behavioral symptoms. [Copyright &y& Elsevier]

Introduction: The finding of mutations of the COQ2 gene and reduced coenzyme Q10 levels in the cerebellum in multiple system atrophy (MSA) suggest that coenzyme Q10 is relevant to MSA pathophysiology. Two recent studies have reported reduced coenzyme Q10 levels in plasma and serum (respectively) of MSA patients compared to Parkinson's disease and/or control subjects, but with largely overlapping values, limited comparison with other parkinsonisms, or dependence on cholesterol levels. We hypothesized that cerebrospinal fluid (CSF) is reliable to assess reductions in coenzyme Q10 as a candidate biomarker of MSA.Methods: In this preliminary cross-sectional study we assessed CSF coenzyme Q10 levels in 20 patients with MSA from the multicenter Catalan MSA Registry and of 15 PD patients, 10 patients with progressive supranuclear palsy (PSP), and 15 control subjects from the Movement Disorders Unit Biosample Collection of Hospital Clinic de Barcelona. A specific ELISA kit was used to determine CSF coenzyme Q10 levels. CSF coenzyme Q10 levels were compared in MSA vs. the other groups globally, pair-wise, and by binary logistic regression models adjusted for age, sex, disease severity, disease duration, and dopaminergic treatment.Results: CSF coenzyme Q10 levels were significantly lower in MSA than in other groups in global and pair-wise comparisons, as well as in multivariate regression models. Receiver operating characteristic curve analyses yielded significant areas under the curve for MSA vs. PD, PSP and controls.Conclusions: These findings support coenzyme Q10 relevance in MSA. Low CSF coenzyme Q10 levels deserve further consideration as a biomarker of MSA. [ABSTRACT FROM AUTHOR]