Cerebral involvement in COVID-19 is associated with metabolic and coagulation derangements: an EEG study

Journal of Neurology -     

Serum phosphorylated neurofilament heavy-chain levels reflect phenotypic heterogeneity and are an independent predictor of survival in motor neuron disease

Journal of Neurology - To investigate the prognostic role and the major determinants of serum phosphorylated neurofilament heavy -chain (pNfH) concentration across a large cohort of motor neuron...     

Analysis of endothelin-1 and endothelin-1 receptor A gene polymorphisms in patients with pulmonary arterial hypertension

This study analyses the frequency and the potential role of two polymorphisms, the +134del/insA, located in the gene encoding for Endothelin-1 (EDN1), and the His323His in the gene encoding for Endothelin receptor type A (EDNRA) in a cohort of 98 consecutive patients with pulmonary arterial hypertension from two different Cardiology Units (Mid-South of Italy), and in 100 healthy Caucasian subjects randomly recruited from the same area. Cardiac anatomy and function were analysed by non invasive diagnostic imaging techniques (Echocardiography standard m-mode, 2D, colour-Doppler) and by invasive studies (cardiac catheterization). Molecular screening of the region of interest was performed by automated sequencing. At univariate analysis, patients with the His323His TT genotype show a lower cardiac index (2 ± 0.6 vs. 2.3 ± 0.6; p = 0.05) and a higher indexed pulmonary vascular resistance (18.8 ± 9.6 vs. 14.2 ± 6.9; p = 0.01) at cardiac catheterization. A logistic multivariate model shows idiopathic disease (p = 0.01; OR = 3.8; CI = 1.3-11) and indexed pulmonary vascular resistances (p = 0.01; OR = 1.1; CI = 1-1.2) as independent predictors of TT genotype. Our findings may suggest a potential link between specific genotypes in the EDNRA gene and susceptibility for PAH.     

Paroxysmal itch caused by gain-of-function Nav1.7 mutation

Itch is a common experience. It can occur in the course of systemic diseases and can be a manifestation of allergies or a consequence of diseases affecting the somatosensory pathway. We describe a kindred characterized by paroxysmal itch caused by a variant in SCN9A gene encoding for the Na_v1.7 sodium channel. Patients underwent clinical and somatosensory profile assessment by quantitative sensory testing, nerve conduction study, autonomic cardiovascular reflex, and sympathetic skin response examination, skin biopsy with quantification of intraepidermal nerve fiber density, and SCN9A mutational analysis. The index patient, her mother, and a sister presented with a stereotypical clinical picture characterized by paroxysmal itch attacks involving the shoulders, upper back, and upper limbs, followed by transient burning pain, and triggered by environmental warmth, hot drinks, and spicy food. Somatosensory profile assessment demonstrated a remarkably identical pattern of increased cold and pain thresholds and paradoxical heat sensation. Autonomic tests were negative, whereas skin biopsy revealed decreased intraepidermal nerve fiber density in 2 of the 3 patients. All affected members harbored the 2215A>G I739V substitution in exon 13 of SCN9A gene. Pregabalin treatment reduced itch intensity and attack frequency in all patients. The co-segregation of the I739V variant in the affected members of the family provides evidence, for the first time, that paroxysmal itch can be related to a mutation in sodium channel gene.     

Sublabial transsphenoidal microsurgical technique to treat congenital transsphenoidal encephalocele: a technical note

Neurosurgical Review - Encephalocele is a rare malformation consisting in herniation of cranial contents through a cranial defect. A transsphenoidal location is uncommon, representing 5% of all...     

Why are Depressive Individuals Indecisive? Different Modes of Rumination Account for Indecision in Non-clinical Depression

Individuals with depressive symptoms tend to adopt an abstract-analytical (A-A) rather than a concrete-experiential (C-E) mode of rumination. A large body of evidence shows that this leads to many deficits that are associated with depression (Watkins in Psychol Bull 134:163–206, 2008). In two studies, the present research examined whether indecision in a non-clinical population could also result from the mode of rumination adopted. In the first study, 174 participants completed measures of depressive symptoms, rumination, decision-making styles and indecision. The results of this study showed that indecision and one dysfunctional decision-making style (hyper-vigilance) significantly correlated with A-A rumination, even when controlling for depression. In a second study, 71 participants with mild to severe depressive symptoms (MSDs) and 49 participants with no to minimal depressive symptoms were trained to adopt either an A-A or a C-E rumination mode, and subsequently requested to make 10 choices. Consistent with the results of the first study, the results of the second study showed that participants in the A-A condition took longer to make their choice compared to participants in the C-E condition, irrespective of their level of depression. Moreover, the group of participants with MSDs experienced slightly more difficulty in decision making when they were in the A-A mode than in the C-E mode. This suggests that the A-A rumination mode could be an antecedent of indecision, whereas the C-E mode predicts its reduction. These interpretations are in line with the idea that A-A rumination is maladaptive and C-E rumination is adaptive.     

Regional mapping of RBP4 to 10q23→q24 and RBP1 to 3q21→q22 in man

The human gene coding for RBP4 has been assigned to 10q2324 using a panel of somatic cell hybrids and in situ hybridization experiments. The mapping of the human RBP1, previously assigned by our group to chromosome 3 using a panel of somatic cell hybrids, was restricted to the region 3q2122 using in situ experiments and Southern blots of genomic DNA from a hybrid retaining a portion of chromosome 3.R.F. is recipient of a Research Grant from A.I.R.C.     

Tumor detectability and conspicuity comparison of standard b1000 and ultrahigh b2000 diffusion-weighted imaging in rectal cancer

Abdominal Radiology - To compare tumor detectability and conspicuity of standard b = 1000 s/mm2 (b1000) versus ultrahigh b = 2000 s/mm2 (b2000)...     

Economic aspects of empiric antibiotic therapy for febrile neutropenia in children with cancer

Several antibiotic regimens have been proposed worldwide for empiric treatment of febrile neutropenia in children with cancer, but none of them shows clear advantages in terms of clinical efficacy. Therefore, other parameters, including drug acquisition costs, should be considered in the selection of treatment. Children receive a "fraction" of a standard daily dose, and this fraction is generally calculated on the basis of body weight; therefore, the cost of each day of therapy is determined by the packages available for each single drug. We calculated the acquisition costs of various drugs proposed for the empiric treatment of febrile neutropenia in children with cancer, and then we estimated the daily cost of therapy referred to different patient weights. In general, the combination regimen with ceftriaxone plus aminoglycoside turned out to be less expensive than other regimens (including monotherapy with third-generation cephalosporins or carbapenems).